Canonical Allele Identifier: CA249689
Gene: CENPJ HGNC NCBI

Linked Data

ClinVar Variation Id: 210660
ClinVar RCV Id: RCV000194611
dbSNP Id: rs797045449

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24906157del , CM000675.2:g.24906157del GRCh38
NC_000013.10:g.25480295del , CM000675.1:g.25480295del GRCh37
NC_000013.9:g.24378295del NCBI36
NG_009165.2:g.21792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.1882del MANE Select ENSP00000371308.4:p.Ala628GlnfsTer?
ENST00000545981.6:c.1882del ENSP00000441090.2:p.Ala628GlnfsTer?
ENST00000381884.8:c.1882del ENSP00000371308.4:p.Ala628GlnfsTer?
ENST00000545981.5:c.1882del ENSP00000441090.2:p.Ala628GlnfsTer?
ENST00000616936.4:c.1882del ENSP00000477511.1:p.Ala628GlnfsTer?
NM_018451.4:c.1882del NP_060921.3:p.Ala628GlnfsTer?
NR_047594.1:n.2077del
NR_047595.1:n.2077del
XM_011535149.1:c.1882del XP_011533451.1:p.Ala628GlnfsTer?
XM_011535150.1:c.1882del XP_011533452.1:p.Ala628GlnfsTer?
XM_011535151.1:c.1882del XP_011533453.1:p.Ala628GlnfsTer?
XR_941627.1:n.2077del
XR_941628.1:n.2077del
XM_011535149.2:c.1882del XP_011533451.1:p.Ala628GlnfsTer?
XM_011535150.2:c.1882del XP_011533452.1:p.Ala628GlnfsTer?
XM_017020673.1:c.1882del XP_016876162.1:p.Ala628GlnfsTer?
NM_018451.5:c.1882del MANE Select NP_060921.3:p.Ala628GlnfsTer?
NR_047594.2:n.2049del
NR_047595.2:n.2049del